Prenatal Diagnosis of Holt-Oram Syndrome

• Authors: Hanna Moczulska , Maria Respondek-Liberska
• Languages of publication: EN

Abstracts

EN

Holt-Oram syndrome is a rare genetic syndrome, characterized by upper limb anomalies and congenital heart defects. The overall prenatal detection rate is low. We report a case of fetus with Holt-Oram syndrome with the current review of the literature.

Keywords

EN

Holt-Oram syndrome; fetal echocardiography; enlargement of the right atrium; prenatal diagnosis

• Publisher: De Gruyter Open
• Journal: Prenatal Cardiology
• Year: 2015
• Volume: 5
• Issue: 1
• Pages: 29-32

Dates

published

1 - 3 - 2015

received

18 - 2 - 2015

accepted

19 - 3 - 2015

online

30 - 12 - 2015

Contributors

author

Hanna Moczulska

• Department of Prenatal Cardiology, Polish Mother's Memorial Hospital Research Institute
• Department of Genetics, Polish Mother's Memorial Hospital Research Institute

author

Maria Respondek-Liberska

• Department of Prenatal Cardiology, Polish Mother's Memorial Hospital Research Institute
• Department of Diagnoses and Prevention Fetal Malformations Medical University of Lodz, Poland

References

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• 6. Sepulveda W, Enriquez G, Martinez JL, Mejia R.: Holt-Oram syndrome: contribution of prenatal 3-dimensional sonography in an index case. J Ultrasound Med. 2004, 23(7): 983-987
• 7. Paladini D, Tiesi M, Buffi D, Tuo G, Marasini M.: Unexplained right atrial enlargement may be a sign of Holt-Oram syndrome in the fetus. Ultrasound Obstet Gynecol. 2014, 4 (43): 475-476

Identifiers

DOI

10.12847/03155